(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the C8A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering C8A transcript NM_000562.2.
(upstream sequence)
. g.1012
tgtgtatctggg c.-121
. . . . . . g.1072
tgagtttccaacatcagatagatcttacaggtcccagcctgtagacatcttttactccaa c.-61
. . . . . . g.1132
tttcctgaatagatagctttattccttcaaggtaatatagtgcggtggcttctggctgag c.-1
. . . . . . g.1192
ATGTTTGCTGTTGTTTTCTTCATCTTGTCTTTGATGACTTGTCAGCCTGGGGTAACTGCA c.60
M F A V V F F I L S L M T C Q P G V T A p.20
. | 02. . . . . g.13882
CAGGAGAAGGTGAACCA | GAGAGTAAGACGGGCAGCTACACCCGCAGCAGTTACCTGCCAG c.120
Q E K V N Q | R V R R A A T P A A V T C Q p.40
. . . . . | 03 . g.21188
CTGAGCAACTGGTCAGAGTGGACAGATTGCTTTCCGTGCCAGGACAAAAAG | TACCGACAC c.180
L S N W S E W T D C F P C Q D K K | Y R H p.60
. . . . . . g.21248
CGGAGCCTCTTGCAGCCAAACAAGTTTGGGGGAACCATCTGCAGTGGTGACATCTGGGAT c.240
R S L L Q P N K F G G T I C S G D I W D p.80
. . . . . . g.21308
CAAGCCAGCTGCTCCAGTTCTACAACTTGTGTAAGGCAAGCACAGTGTGGACAGGATTTC c.300
Q A S C S S S T T C V R Q A Q C G Q D F p.100
. | 04 . . . . . g.22336
CAGTGTAAGGAGACAG | GTCGCTGCCTGAAACGCCACCTTGTGTGTAATGGAGACCAGGAC c.360
Q C K E T G | R C L K R H L V C N G D Q D p.120
. . . . . . g.22396
TGCCTTGATGGCTCTGATGAGGACGACTGTGAAGATGTCAGGGCCATTGACGAAGACTGC c.420
C L D G S D E D D C E D V R A I D E D C p.140
. . . . | 05 . . g.27691
AGCCAGTATGAACCAATTCCAGGATCACAGAAGGCAGCCTTGGG | GTACAATATCCTGACC c.480
S Q Y E P I P G S Q K A A L G | Y N I L T p.160
. . . . . . g.27751
CAGGAAGATGCTCAGAGTGTGTACGATGCCAGTTATTATGGGGGCCAGTGTGAGACGGTA c.540
Q E D A Q S V Y D A S Y Y G G Q C E T V p.180
. . . . . . g.27811
TACAATGGGGAATGGAGGGAGCTTCGATATGACTCCACCTGTGAACGTCTCTACTATGGA c.600
Y N G E W R E L R Y D S T C E R L Y Y G p.200
. . . . . | 06 . g.29717
GATGATGAGAAATACTTTCGGAAACCCTACAACTTTCTGAAGTACCACTTTGAA | GCCCTG c.660
D D E K Y F R K P Y N F L K Y H F E | A L p.220
. . . . . . g.29777
GCAGATACTGGAATCTCCTCAGAGTTTTATGATAATGCAAATGACCTTCTTTCCAAAGTT c.720
A D T G I S S E F Y D N A N D L L S K V p.240
. . . . . . g.29837
AAAAAAGACAAGTCTGACTCATTTGGAGTGACCATCGGCATAGGCCCAGCCGGCAGCCCT c.780
K K D K S D S F G V T I G I G P A G S P p.260
. . . . . . g.29897
TTATTGGTGGGTGTAGGTGTATCCCACTCACAAGACACTTCATTCTTGAACGAATTAAAC c.840
L L V G V G V S H S Q D T S F L N E L N p.280
. | 07 . . . . . g.32202
AAGTATAATGAGAAG | AAATTCATTTTCACAAGAATCTTCACAAAGGTGCAGACTGCACAT c.900
K Y N E K | K F I F T R I F T K V Q T A H p.300
. . . . . . g.32262
TTTAAGATGAGGAAGGATGACATTATGCTGGATGAAGGAATGCTGCAGTCATTAATGGAG c.960
F K M R K D D I M L D E G M L Q S L M E p.320
. . . . . . g.32322
CTTCCAGATCAGTACAATTATGGCATGTATGCCAAGTTCATCAATGACTATGGCACCCAT c.1020
L P D Q Y N Y G M Y A K F I N D Y G T H p.340
. . . . . . g.32382
TACATCACATCTGGATCCATGGGTGGCATTTATGAATATATCCTGGTGATTGACAAAGCA c.1080
Y I T S G S M G G I Y E Y I L V I D K A p.360
. | 08 . . . . . g.52941
AAAATGGAATCCCTTG | GTATTACCAGCAGAGATATCACGACATGTTTTGGAGGCTCCTTG c.1140
K M E S L G | I T S R D I T T C F G G S L p.380
. . . . . . g.53001
GGCATTCAATATGAAGACAAAATAAATGTTGGTGGAGGTTTATCAGGAGACCATTGTAAA c.1200
G I Q Y E D K I N V G G G L S G D H C K p.400
. . | 09 . . . . g.54224
AAATTTGGAGGTGGCAAAACTG | AAAGGGCCAGGAAGGCCATGGCTGTGGAAGACATTATT c.1260
K F G G G K T E | R A R K A M A V E D I I p.420
. . . . . . g.54284
TCTCGGGTGCGAGGTGGCAGTTCTGGCTGGAGCGGTGGCTTGGCACAGAACAGGAGCACC c.1320
S R V R G G S S G W S G G L A Q N R S T p.440
. . . . . . g.54344
ATTACATACCGTTCCTGGGGGAGGTCATTAAAGTATAATCCTGTTGTTATCGATTTTGAG c.1380
I T Y R S W G R S L K Y N P V V I D F E p.460
| 10 . . . . . . g.58693
| ATGCAGCCTATCCACGAGGTGCTGCGGCACACAAGCCTGGGGCCTCTGGAGGCCAAGCGC c.1440
| M Q P I H E V L R H T S L G P L E A K R p.480
. . . . . . g.58753
CAGAACCTGCGCCGCGCCTTGGACCAGTATCTGATGGAATTCAATGCCTGCCGATGTGGG c.1500
Q N L R R A L D Q Y L M E F N A C R C G p.500
. . . . . . g.58813
CCTTGCTTCAACAATGGGGTGCCCATCCTCGAGGGCACCAGCTGCAGGTGCCAGTGCCGC c.1560
P C F N N G V P I L E G T S C R C Q C R p.520
. . . . | 11 . . g.63812
CTGGGTAGCTTGGGTGCTGCCTGTGAGCAAACACAGACAGAAG | GAGCCAAAGCAGATGGG c.1620
L G S L G A A C E Q T Q T E G | A K A D G p.540
. . . . . . g.63872
AGCTGGAGTTGCTGGAGCTCCTGGTCTGTATGCAGAGCAGGCATCCAGGAAAGGAGAAGA c.1680
S W S C W S S W S V C R A G I Q E R R R p.560
. . . . . . g.63932
GAGTGTGACAATCCAGCACCTCAGAATGGAGGGGCCTCGTGTCCAGGGCGGAAAGTACAG c.1740
E C D N P A P Q N G G A S C P G R K V Q p.580
. g.63947
ACGCAGGCTTGCTGA c.1755
T Q A C X p.584
. . . . . . g.64007
gggcctctggacacaggctggaccagatgctgtggatgtcgacccctgcactgactattg c.*60
. . . . . . g.64067
gataaagacttctttcaactaagagaagatgcaaatcagcacacttttttctttgttctg c.*120
. . . . . . g.64127
ccagcttccaggcctaagactaggttttgctgtctacagccaactattctattagttaca c.*180
. . . . . . g.64187
aaactcaatcattttattcagcaactggatgttgactgttaactagaagctctgtcctac c.*240
. . . . . . g.64247
ttacagcactttggatcatcaaaaaaataaagtaaaatagaaaactgagaaaactcaatc c.*300
. . . . . . g.64307
catgaccagggagaacttacaggatgttagagacaaaacaagcagacacctgaaacaatc c.*360
. . . . . . g.64367
aacgcccaataaaacaaagtaggatgaaaattctcttagttctttgataacaatttgttc c.*420
. . . . . . g.64427
actcatagaaacattattaattggtagggtaagcagacactctgaaacaatgagaaaaat c.*480
. . g.64452
actaaaaattgacttgagttatttc c.*505
(downstream sequence)
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